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Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry.
Eur Spine J. 2019 Oct; 28(10):2257-2265.ES

Abstract

INTRODUCTION

Klippel-Feil syndrome (KFS) occurs due to failure of vertebral segmentation during development. Minimal research has been done to understand the prevalence of associated symptoms. Here, we report one of the largest collections of KFS patient data.

METHODS

Data were obtained from the CoRDS registry. Participants with cervical fusions were categorized into Type I, II, or III based on the Samartzis criteria. Symptoms and comorbidities were assessed against type and location of fusion.

RESULTS

Seventy-five patients (60F/14M/1 unknown) were identified and classified as: Type I, n = 21(28%); Type II, n = 15(20%); Type III, n = 39(52%). Cervical fusion by level were: OC-C1, n = 17(22.7%), C1-C2, n = 24(32%); C2-C3, n = 42(56%); C3-C4, n = 30(40%); C4-C5, n = 42(56%); C5-C6, n = 32(42.7%); C6-C7, n = 25(33.3%); C7-T1, n = 13(17.3%). 94.6% of patients reported current symptoms and the average age when symptoms began and worsened were 17.5 (± 13.4) and 27.6 (± 15.3), respectively. Patients reported to have a high number of comorbidities including spinal, neurological and others, a high frequency of general symptoms (e.g., fatigue, dizziness) and chronic symptoms (limited range of neck motion [LROM], neck/spine muscles soreness). Sprengel deformity was reported in 26.7%. Most patients reported having received medication and invasive/non-invasive procedures. Multilevel fusions (Samartzis II/III) were significantly associated with dizziness (p = 0.040), the presence of LROM (p = 0.022), and Sprengel deformity (p = 0.036).

CONCLUSION

KFS is associated with a number of musculoskeletal and neurological symptoms. Fusions are more prevalent toward the center of the cervical region, and less common at the occipital/thoracic junction. Associated comorbidities including Sprengel deformity may be more common in KFS patients with multilevel cervical fusions. These slides can be retrieved under Electronic Supplementary Material.

Authors+Show Affiliations

Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, USA. Department of Neurosurgery, Yale University School of Medicine, New Haven, USA.Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, USA. Department of Neurosurgery, Yale University School of Medicine, New Haven, USA.Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, USA.Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, USA.Department of Neurosurgery, University of Cambridge, Cambridge, UK.Department of Neurosurgery, Rutgers University, Newark, USA.Department of Neurosurgery, Geneva University Hospitals, Geneva, Switzerland.Division of Neurosurgery, University of Toronto, Toronto, Canada.Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, USA. joseph.cheng@uc.edu.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31363914

Citation

Nouri, Aria, et al. "Demographics, Presentation and Symptoms of Patients With Klippel-Feil Syndrome: Analysis of a Global Patient-reported Registry." European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, vol. 28, no. 10, 2019, pp. 2257-2265.
Nouri A, Patel K, Evans H, et al. Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. Eur Spine J. 2019;28(10):2257-2265.
Nouri, A., Patel, K., Evans, H., Saleh, M., Kotter, M. R. N., Heary, R. F., Tessitore, E., Fehlings, M. G., & Cheng, J. S. (2019). Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 28(10), 2257-2265. https://doi.org/10.1007/s00586-019-06084-0
Nouri A, et al. Demographics, Presentation and Symptoms of Patients With Klippel-Feil Syndrome: Analysis of a Global Patient-reported Registry. Eur Spine J. 2019;28(10):2257-2265. PubMed PMID: 31363914.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. AU - Nouri,Aria, AU - Patel,Kishan, AU - Evans,Hardy, AU - Saleh,Mohamed, AU - Kotter,Mark R N, AU - Heary,Robert F, AU - Tessitore,Enrico, AU - Fehlings,Michael G, AU - Cheng,Joseph S, Y1 - 2019/07/30/ PY - 2019/01/03/received PY - 2019/06/16/accepted PY - 2019/04/28/revised PY - 2019/8/1/pubmed PY - 2019/8/1/medline PY - 2019/8/1/entrez KW - Cervical spine KW - Clinical presentation KW - Congenital KW - Demographics KW - Klippel-Feil syndrome KW - Pain SP - 2257 EP - 2265 JF - European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society JO - Eur Spine J VL - 28 IS - 10 N2 - INTRODUCTION: Klippel-Feil syndrome (KFS) occurs due to failure of vertebral segmentation during development. Minimal research has been done to understand the prevalence of associated symptoms. Here, we report one of the largest collections of KFS patient data. METHODS: Data were obtained from the CoRDS registry. Participants with cervical fusions were categorized into Type I, II, or III based on the Samartzis criteria. Symptoms and comorbidities were assessed against type and location of fusion. RESULTS: Seventy-five patients (60F/14M/1 unknown) were identified and classified as: Type I, n = 21(28%); Type II, n = 15(20%); Type III, n = 39(52%). Cervical fusion by level were: OC-C1, n = 17(22.7%), C1-C2, n = 24(32%); C2-C3, n = 42(56%); C3-C4, n = 30(40%); C4-C5, n = 42(56%); C5-C6, n = 32(42.7%); C6-C7, n = 25(33.3%); C7-T1, n = 13(17.3%). 94.6% of patients reported current symptoms and the average age when symptoms began and worsened were 17.5 (± 13.4) and 27.6 (± 15.3), respectively. Patients reported to have a high number of comorbidities including spinal, neurological and others, a high frequency of general symptoms (e.g., fatigue, dizziness) and chronic symptoms (limited range of neck motion [LROM], neck/spine muscles soreness). Sprengel deformity was reported in 26.7%. Most patients reported having received medication and invasive/non-invasive procedures. Multilevel fusions (Samartzis II/III) were significantly associated with dizziness (p = 0.040), the presence of LROM (p = 0.022), and Sprengel deformity (p = 0.036). CONCLUSION: KFS is associated with a number of musculoskeletal and neurological symptoms. Fusions are more prevalent toward the center of the cervical region, and less common at the occipital/thoracic junction. Associated comorbidities including Sprengel deformity may be more common in KFS patients with multilevel cervical fusions. These slides can be retrieved under Electronic Supplementary Material. SN - 1432-0932 UR - https://www.unboundmedicine.com/medline/citation/31363914/Demographics_presentation_and_symptoms_of_patients_with_Klippel_Feil_syndrome:_analysis_of_a_global_patient_reported_registry_ L2 - https://doi.org/10.1007/s00586-019-06084-0 DB - PRIME DP - Unbound Medicine ER -
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